Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion> ?p ?o ?g. }
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- NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion type Assertion NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_head.
- NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion description "[Deficiency of X-linked inhibitor of apoptosis (XIAP), caused by BIRC4 gene mutations, is the second known cause of X-linked lymphoproliferative disease (XLP), a rare primary immunodeficiency that often presents with life-threatening hemophagocytic lymphohistiocytosis (HLH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_provenance.
- NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion evidence source_evidence_literature NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_provenance.
- NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion SIO_000772 19288545 NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_provenance.
- NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion wasDerivedFrom befree-20150227 NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_provenance.
- NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_assertion wasGeneratedBy ECO_0000203 NP242437.RA63l1TSpr7--RkVTR7jRrudsDfdJ4g2yjrlSZZPqpS3U130_provenance.